Gene Gene information from NCBI Gene database.
Entrez ID 2000
Gene name E74 like ETS transcription factor 4
Gene symbol ELF4
Synonyms (NCBI Gene)
AIFBL2ELFRMEF
Chromosome X
Chromosome location Xq26.1
Summary The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction o
miRNA miRNA information provided by mirtarbase database.
474
miRTarBase ID miRNA Experiments Reference
MIRT002580 hsa-miR-124-3p Microarray 15685193
MIRT002580 hsa-miR-124-3p Microarray 15685193
MIRT002580 hsa-miR-124-3p Microarray 18668037
MIRT029730 hsa-miR-26b-5p Microarray 19088304
MIRT050308 hsa-miR-25-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
NPM1 Unknown 23393136
SP1 Activation 15907486
TP53 Unknown 20805247
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 14625302
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 14625302
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300775 3319 ENSG00000102034
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99607
Protein name ETS-related transcription factor Elf-4 (E74-like factor 4) (Myeloid Elf-1-like factor)
Protein function Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to tran
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12310 Elf-1_N 2 104 Transcription factor protein N terminal Family
PF00178 Ets 210 291 Ets-domain Domain
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in the placenta and in a variety of myeloid leukemia cell lines. Moderate levels of expression in heart, lung, spleen, thymus, peripheral blood lymphocytes, ovary and colon. Lower levels of expression in Jurkat T-c
Sequence
MAITLQPSDLIFEFASNGMDDDIHQLEDPSVFPAVIVEQVPYPDLLHLYSGLELDDVHNG
IITDGTLCMTQDQILEGSFLLTDDNEATSHTMSTAEVLLNMESP
SDILDEKQIFSTSEML
PDSDPAPAVTLPNYLFPASEPDALNRAGDTSDQEGHSLEEKASREESAKKTGKSKKRIRK
TKGNRSTSPVTDPSIPIRKKSKDGKGSTIYLWEFLLALLQDRNTCPKYIKWTQREKGIFK
LVDSKAVSKLWGKQKNKPDMNYETMGRALRYYYQRGILAKVEGQRLVYQFK
EMPKDLVVI
EDEDESSEATAAPPQASTASVASASTTRRTSSRVSSRSAPQGKGSSSWEKPKIQHVGLQP
SASLELGPSLDEEIPTTSTMLVSPAEGQVKLTKAVSASSVPSNIHLGVAPVGSGSALTLQ
TIPLTTVLTNGPPASTTAPTQLVLQSVPAASTFKDTFTLQASFPLNASFQDSQVAAPGAP
LILSGLPQLLAGANRPTNPAPPTVTGAGPAGPSSQPPGTVIAAFIRTSGTTAAPRVKEGP
LRSSSYVQGMVTGAPMEGLLVPEETLRELLRDQAHLQPLPTQVVSRGSHNPSLLGNQTLS
PPSRPTVGLTPVAELELSSGSGSLLMAEPSVTTSGSLLTRSPTPAPFSPFNPTSLIKMEP
HDI
Sequence length 663
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute myeloid leukemia Pathogenic rs137884184 RCV005931786
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 Pathogenic rs2124614205, rs2124612467, rs2124614270 RCV002221446
RCV002221447
RCV002221448
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ELF4-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
X-LINKED AGAMMAGLOBULINEMIA WITH GROWTH HORMONE DEFICIENCY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 12771947
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28069875
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 19457610 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32170761 Associate
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 36158120 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 36923538 Associate
★☆☆☆☆
Found in Text Mining only
Delirium Delirium Pubtator 29991314 Associate
★☆☆☆☆
Found in Text Mining only
Encephalitis Encephalitis BEFREE 24185615
★☆☆☆☆
Found in Text Mining only
Epithelioma Epithelioma BEFREE 26921333
★☆☆☆☆
Found in Text Mining only
Familial Mediterranean Fever Familial mediterranean fever Pubtator 9152834 Associate
★☆☆☆☆
Found in Text Mining only